Canonical Allele Identifier: CA473299671

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1553689
• ClinVar RCV Id: RCV002199445
• dbSNP Id: rs1954419460
• MyVariant Identifiers: chr11:g.17426136T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404589T>C , CM000673.2:g.17404589T>C	GRCh38
NC_000011.9:g.17426136T>C , CM000673.1:g.17426136T>C	GRCh37
NC_000011.8:g.17382712T>C	NCBI36
NG_008867.1:g.77314A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3049A>G
ENST00000528374.2:c.59A>G
ENST00000529967.6:n.1819A>G
ENST00000532220.2:n.1212A>G
ENST00000642611.2:n.3549A>G
ENST00000645004.2:n.979A>G
ENST00000682051.1:n.3496A>G
ENST00000682110.1:n.3549A>G
ENST00000682140.1:c.3477A>G	ENSP00000507829.1:p.Thr1159=
ENST00000682185.1:n.4785A>G
ENST00000682204.1:c.*1618A>G	ENSP00000507094.1:n.*1618A>G
ENST00000682215.1:n.3546A>G
ENST00000682288.1:c.*1911A>G	ENSP00000507506.1:n.*1911A>G
ENST00000682442.1:n.3769A>G
ENST00000682528.1:n.3626A>G
ENST00000682673.1:n.3493A>G
ENST00000682805.1:n.3546A>G
ENST00000682965.1:c.3396+905A>G	ENSP00000508229.1:n.3396+905A>G
ENST00000683093.1:n.3648A>G
ENST00000683136.1:c.3477A>G	ENSP00000507768.1:p.Thr1159=
ENST00000683153.1:n.3705A>G
ENST00000683365.1:n.3651A>G
ENST00000683377.1:n.3549A>G
ENST00000683456.1:c.*617A>G	ENSP00000508318.1:n.*617A>G
ENST00000683522.1:n.3549A>G
ENST00000683562.1:c.*1649A>G	ENSP00000508265.1:n.*1649A>G
ENST00000683693.1:n.3626A>G
ENST00000683725.1:c.3480A>G	ENSP00000507496.1:p.Thr1160=
ENST00000684010.1:n.3544A>G
ENST00000684157.1:n.3549A>G
ENST00000684253.1:n.3452A>G
ENST00000684288.1:c.*1652A>G	ENSP00000507143.1:n.*1652A>G
ENST00000684313.1:n.2981A>G
ENST00000684332.1:n.3622A>G
ENST00000684371.1:n.3655A>G
ENST00000684404.1:n.3592A>G
ENST00000684442.1:n.3549A>G
ENST00000684555.1:c.*1692A>G	ENSP00000507705.1:n.*1692A>G
ENST00000684571.1:c.3321A>G	ENSP00000506935.1:p.Thr1107=
ENST00000684593.1:c.*3185A>G	ENSP00000507005.1:n.*3185A>G
ENST00000684711.1:c.*1876A>G	ENSP00000506841.1:n.*1876A>G
ENST00000302539.9:c.3483A>G	ENSP00000303960.4:p.Thr1161=
ENST00000389817.8:c.3480A>G MANE Select	ENSP00000374467.4:p.Thr1160=
ENST00000642271.1:c.3477A>G	ENSP00000493749.1:p.Thr1159=
ENST00000642579.1:c.1564A>G
ENST00000642611.1:n.3434A>G
ENST00000642902.1:c.3262A>G
ENST00000643260.1:c.3480A>G	ENSP00000494450.1:p.Thr1160=
ENST00000643562.1:c.*1456A>G	ENSP00000496124.1:n.*1456A>G
ENST00000643925.1:c.1604A>G
ENST00000644447.1:c.1836A>G	ENSP00000496282.1:p.Thr612=
ENST00000644484.1:c.*1735A>G	ENSP00000493558.1:n.*1735A>G
ENST00000644675.1:c.*1652A>G	ENSP00000494567.1:n.*1652A>G
ENST00000644757.1:c.*1765A>G	ENSP00000495085.1:n.*1765A>G
ENST00000644772.1:c.3546A>G	ENSP00000494321.1:p.Thr1182=
ENST00000645004.1:n.619A>G
ENST00000645076.1:c.2679A>G
ENST00000645417.1:c.646A>G
ENST00000645744.1:c.*1744A>G	ENSP00000494564.1:n.*1744A>G
ENST00000645760.1:c.3755A>G
ENST00000645884.1:c.*617A>G	ENSP00000495516.1:n.*617A>G
ENST00000646003.1:c.*1436A>G	ENSP00000495259.1:n.*1436A>G
ENST00000646207.1:c.*1947A>G	ENSP00000495025.1:n.*1947A>G
ENST00000646276.1:c.*1753A>G	ENSP00000496070.1:n.*1753A>G
ENST00000646592.1:c.2786A>G
ENST00000646902.1:c.3477A>G	ENSP00000494101.1:p.Thr1159=
ENST00000646993.1:c.*1876A>G	ENSP00000493720.1:n.*1876A>G
ENST00000647013.1:c.3486A>G	ENSP00000496741.1:n.3486A>G
ENST00000647015.1:c.3231A>G	ENSP00000495389.1:p.Thr1077=
ENST00000647086.1:c.*3210A>G	ENSP00000493677.1:n.*3210A>G
ENST00000647158.1:c.*1621A>G	ENSP00000495744.1:n.*1621A>G
ENST00000302539.8:c.3483A>G	ENSP00000303960.4:p.Thr1161=
ENST00000389817.7:c.3480A>G	ENSP00000374467.3:p.Thr1160=
ENST00000524561.1:n.612A>G
ENST00000527905.5:c.*356A>G	ENSP00000431653.1:n.*356A>G
NM_000352.4:c.3480A>G	NP_000343.2:p.Thr1160=
NM_001287174.1:c.3483A>G	NP_001274103.1:p.Thr1161=
XM_011520331.1:c.3480A>G	XP_011518633.1:p.Thr1160=
XM_011520332.1:c.3483A>G	XP_011518634.1:p.Thr1161=
XM_011520333.1:c.1980A>G	XP_011518635.1:p.Thr660=
XR_930890.1:n.3546A>G
XR_930892.1:n.3446A>G
XR_930893.1:n.3443A>G
NM_001351295.1:c.3546A>G	NP_001338224.1:p.Thr1182=
NM_001351296.1:c.3480A>G	NP_001338225.1:p.Thr1160=
NM_001351297.1:c.3477A>G	NP_001338226.1:p.Thr1159=
NR_147094.1:n.3629A>G
XM_017018197.2:c.3549A>G	XP_016873686.1:p.Thr1183=
XM_017018199.1:c.3546A>G	XP_016873688.1:p.Thr1182=
XM_017018201.2:c.3549A>G	XP_016873690.1:p.Thr1183=
XM_017018202.1:c.2046A>G	XP_016873691.1:p.Thr682=
XM_017018204.1:c.1437A>G	XP_016873693.1:p.Thr479=
XM_024448668.1:c.1848A>G	XP_024304436.1:p.Thr616=
XR_001747945.2:n.3621A>G
XR_001747946.2:n.3552A>G
XR_002957189.1:n.3701A>G
NM_000352.6:c.3480A>G MANE Select	NP_000343.2:p.Thr1160=
NM_001287174.2:c.3483A>G	NP_001274103.1:p.Thr1161=
NM_001351295.2:c.3546A>G	NP_001338224.1:p.Thr1182=
NM_001351296.2:c.3480A>G	NP_001338225.1:p.Thr1160=
NM_001351297.2:c.3477A>G	NP_001338226.1:p.Thr1159=
NR_147094.2:n.3629A>G
NM_001287174.3:c.3483A>G	NP_001274103.1:p.Thr1161=